NM_000074.3(CD40LG):c.347-1G>ARat Genome Database

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Variant : CV917573 (NM_000074.3(CD40LG):c.347-1G>A) Homo sapiens

Symbol: CV917573
Name: NM_000074.3(CD40LG):c.347-1G>A
RGD ID: 34896112
Condition: Hyperimmunoglobulin M syndrome [RCV001193392]
Clinical Significance: pathogenic
Last Evaluated: 02/25/2019
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NG_007280.1:g.13179G>A
LRG_141t1:c.347-1G>A
NM_000074.2:c.347-1G>A
NM_000074.3:c.347-1G>A
LRG_141:g.13179G>A
NC_000023.11:g.136656355G>A
NC_000023.10:g.135738514G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,656,355 - 136,656,355CLINVAR
GRCh37X135,738,514 - 135,738,514CLINVAR
Cytogenetic MapXXq26.3CLINVAR
Trait Synonyms: Hyper IgM syndrome; Immunodeficiency with IgM hypergammaglobulinemia



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:27189378  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001193392 CLINVAR
MedGen C0272236 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
SNOMED CT 82286005 CLINVAR